Identification of a novel NF1 deletion variant in a Taiwanese boy with neurofibromatosis type 1-associated Moyamoya syndrome.

Yang, Yung-Yu; Yu, Chia-Hsiang; Hu, Chih-Fen; Sung, Chia-Cheng; Chen, Shyi-Jou

Yang, Yung-Yu; Yu, Chia-Hsiang; Hu, Chih-Fen; Sung, Chia-Cheng; Chen, Shyi-Jou.

Afiliación

Yang YY; Department of General Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC.
Yu CH; Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC.
Hu CF; Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC.
Sung CC; Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC.
Chen SJ; Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC; Graduate Institute of Microbiology and Immunology, National Defense Medical Center, Taipei, Taiwan, ROC. Electronic address: chensjou@yahoo.com.tw.

Pediatr Neonatol ; 64(2): 210-212, 2023 03.

Article en En | MEDLINE | ID: mdl-36529650

Asunto(s)

Enfermedad de Moyamoya; Neurofibromatosis 1; Humanos; Masculino; Enfermedad de Moyamoya/complicaciones; Enfermedad de Moyamoya/genética; Neurofibromatosis 1/complicaciones; Neurofibromatosis 1/genética; Neurofibromina 1/genética

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Enfermedad de Moyamoya Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans / Male Idioma: En Revista: Pediatr Neonatol Año: 2023 Tipo del documento: Article

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